Cataract 2, multiple types

Preferred Label : Cataract 2, multiple types;

Symbol : CTRCT2;

CISMeF acronym : CCL; CTRCT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, coppock-like; Cataract 2, multiple types, with or without microcornea; CCL;

Description : Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-C-crystallin (CRYGC, 123680.0001);

Prefixed ID : #604307;

Details

Origin ID

604307;

UMLS CUI

C4721890;

Automatic exact mappings (from CISMeF team)
- (R)-citramalyl-CoA lyase activity [GO term]
- Coppock-like cataract [ICD-11 More detail]
- Early-onset non-syndromic cataract [ORDO Disease]
- Nuclear pulverulent cataract [HPO term]
- Pulverulent cataract [ORDO Disease]
- cataract 30 [DO Concept]
Currated CISMeF NLP mapping
- Coppock-like cataract [ORDO Disease]
- cataract 2 multiple types [DO Concept]
- cataract, Coppock-Like [MeSH concept]
- cataract, Coppock-Like [MeSH Supplementary Concept]
DO Cross reference
- cataract 2 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, gamma-C [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Microcornea [HPO term]
- Nuclear cataract [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Coppock-like cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coppock-like cataract [ORDO Disease]
- cataract 2 multiple types [DO Concept]
- cataract, Coppock-Like [MeSH concept]
- cataract, Coppock-Like [MeSH Supplementary Concept]

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